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Figure 5
MPDZ pathogenic variations in humans. Schematic representation of the human MPDZ protein showing the distribution of variations. Blue represents a variation related to the hydrocephalus phenotype in Clinvar (https://www.ncbi.nlm.nih.gov/clinvar/, accessed on 20 August 2022). Green indicates that the pathogenic condition of the variation was “not provided” in Clinvar. Red and brown indicate that the variation was reported with the phenotype of retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), respectively. Asterisks denote variants related to macular coloboma (MC) in the present study.
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